Rezultati - Robertson, Stephen P.

Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A od Ithychanda, Sujay S., Dou, Kevin, Robertson, Stephen P., Qin, Jun

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Cantu syndrome and hypopituitarism: implications for endocrine monitoring od Theis, Nicholas J, Calvert, Toby, McIntyre, Peter, Robertson, Stephen P, Wheeler, Benjamin J

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Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1 od Robertson, Stephen P., Walsh, Sinead, Oldridge, Michael, Gunn, Tania, Becroft, David, Wilkie, Andrew O. M.

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A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker od Mazzaschi, Roberto L. P., Taylor, Juliet, Robertson, Stephen P., Love, Donald R., George, Alice M.

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Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia od Wade, Emma M., Parthasarathy, Padmini, Mi, Jingyi, Morgan, Tim, Wollnik, Bernd, Robertson, Stephen P., Cundy, Tim

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Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome od Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.

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Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family od Cameron-Christie, Sophia R., Wilde, Justin, Gray, Andrew, Tankard, Rick, Bahlo, Melanie, Markie, David, Evans, Helen M., Robertson, Stephen P.

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Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression od Lind, Thomas, Lugano, Roberta, Gustafson, Ann-Marie, Norgård, Maria, van Haeringen, Arie, Dimberg, Anna, Melhus, Håkan, Robertson, Stephen P., Andersson, Göran

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The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms od Campeau, Philippe M, Lu, James T, Dawson, Brian C, Fokkema, Ivo F A C, Robertson, Stephen P, Gibbs, Richard A, Lee, Brendan H

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Association of mutations in FLNA with craniosynostosis od Fennell, Nathalie, Foulds, Nicola, Johnson, Diana S, Wilson, Louise C, Wyatt, Michelle, Robertson, Stephen P, Johnson, David, Wall, Steven A, Wilkie, Andrew OM

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Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases od Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne

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Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model od Zieba, Jennifer, Forlenza, Kimberly N., Heard, Kelly, Martin, Jorge H., Bosakova, Michaela, Cohn, Daniel H., Robertson, Stephen P., Krejci, Pavel, Krakow, Deborah

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Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome od Gray, Mary J, Kim, Chong Ae, Bertola, Debora Romeo, Arantes, Paula Ricci, Stewart, Helen, Simpson, Michael A, Irving, Melita D, Robertson, Stephen P

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Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis od Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J., Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J. M., Markie, David, Robertson, Stephen P., Wade, Emma M.

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Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome od Twigg, Stephen R. F., Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Wilkie, Andrew O. M.

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Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex od O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia

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Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype od Driver, Sean G. W., Jackson, Meremaihi R., Richter, Konrad, Tomlinson, Paul, Brockway, Ben, Halliday, Benjamin J., Markie, David M., Robertson, Stephen P., Wade, Emma M.

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Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity od Daniel, Steffi, Renwick, Marian, Chau, Viet Q., Datta, Shyamtanu, Maddineni, Prabhavathi, Zode, Gulab, Wade, Emma M., Robertson, Stephen P., Petroll, W. Matthew, Hulleman, John D.

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RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape od Gay, Olivia, Gilquin, Benoît, Nakamura, Fumihiko, Jenkins, Zandra A., McCartney, Rosannah, Krakow, Deborah, Deshiere, Alexandre, Assard, Nicole, Hartwig, John H., Robertson, Stephen P., Baudier, Jacques

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ECE2 regulates neurogenesis and neuronal migration during human cortical development od Buchsbaum, Isabel Y, Kielkowski, Pavel, Giorgio, Grazia, O'Neill, Adam C, Di Giaimo, Rossella, Kyrousi, Christina, Khattak, Shahryar, Sieber, Stephan A, Robertson, Stephen P, Cappello, Silvia

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